HPO Phenotype Lookup
lookup_phenotypeRetrieve an HPO phenotype term and its associated disease annotations, including definitions, synonyms, and parent terms, integrated with HPO, OMIM, and Orphanet databases.
Instructions
Retrieve an HPO phenotype term with associated disease annotations.
Returns:
Phenotype label, definition, synonyms
Diseases annotated with this phenotype (from HPO + OMIM + Orphanet)
Parent phenotype terms
Example: lookup_phenotype(hpo_id='HP:0001250')
returns the Seizure phenotype with ~400 associated diseases.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| params | Yes |
Output Schema
| Name | Required | Description | Default |
|---|---|---|---|
| result | Yes |